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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 22-35323167-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=35323167&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 35323167,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001135732.2",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1",
"gene_hgnc_id": 11982,
"hgvs_c": "c.356A>G",
"hgvs_p": "p.Asn119Ser",
"transcript": "NM_005488.3",
"protein_id": "NP_005479.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 492,
"cds_start": 356,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000449058.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005488.3"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1",
"gene_hgnc_id": 11982,
"hgvs_c": "c.356A>G",
"hgvs_p": "p.Asn119Ser",
"transcript": "ENST00000449058.7",
"protein_id": "ENSP00000394466.2",
"transcript_support_level": 1,
"aa_start": 119,
"aa_end": null,
"aa_length": 492,
"cds_start": 356,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005488.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000449058.7"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1",
"gene_hgnc_id": 11982,
"hgvs_c": "c.356A>G",
"hgvs_p": "p.Asn119Ser",
"transcript": "ENST00000411850.5",
"protein_id": "ENSP00000413697.1",
"transcript_support_level": 1,
"aa_start": 119,
"aa_end": null,
"aa_length": 493,
"cds_start": 356,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000411850.5"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1",
"gene_hgnc_id": 11982,
"hgvs_c": "c.356A>G",
"hgvs_p": "p.Asn119Ser",
"transcript": "ENST00000953252.1",
"protein_id": "ENSP00000623311.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 568,
"cds_start": 356,
"cds_end": null,
"cds_length": 1707,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953252.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1",
"gene_hgnc_id": 11982,
"hgvs_c": "c.356A>G",
"hgvs_p": "p.Asn119Ser",
"transcript": "ENST00000883951.1",
"protein_id": "ENSP00000554010.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 555,
"cds_start": 356,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883951.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1",
"gene_hgnc_id": 11982,
"hgvs_c": "c.356A>G",
"hgvs_p": "p.Asn119Ser",
"transcript": "ENST00000883941.1",
"protein_id": "ENSP00000554000.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 554,
"cds_start": 356,
"cds_end": null,
"cds_length": 1665,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883941.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1",
"gene_hgnc_id": 11982,
"hgvs_c": "c.356A>G",
"hgvs_p": "p.Asn119Ser",
"transcript": "ENST00000883949.1",
"protein_id": "ENSP00000554008.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 537,
"cds_start": 356,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883949.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1",
"gene_hgnc_id": 11982,
"hgvs_c": "c.356A>G",
"hgvs_p": "p.Asn119Ser",
"transcript": "ENST00000953249.1",
"protein_id": "ENSP00000623308.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 537,
"cds_start": 356,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953249.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1",
"gene_hgnc_id": 11982,
"hgvs_c": "c.356A>G",
"hgvs_p": "p.Asn119Ser",
"transcript": "ENST00000953248.1",
"protein_id": "ENSP00000623307.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 536,
"cds_start": 356,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953248.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1",
"gene_hgnc_id": 11982,
"hgvs_c": "c.356A>G",
"hgvs_p": "p.Asn119Ser",
"transcript": "ENST00000883950.1",
"protein_id": "ENSP00000554009.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 524,
"cds_start": 356,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883950.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1",
"gene_hgnc_id": 11982,
"hgvs_c": "c.356A>G",
"hgvs_p": "p.Asn119Ser",
"transcript": "ENST00000883947.1",
"protein_id": "ENSP00000554006.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 523,
"cds_start": 356,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883947.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1",
"gene_hgnc_id": 11982,
"hgvs_c": "c.356A>G",
"hgvs_p": "p.Asn119Ser",
"transcript": "ENST00000883945.1",
"protein_id": "ENSP00000554004.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 521,
"cds_start": 356,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883945.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1",
"gene_hgnc_id": 11982,
"hgvs_c": "c.356A>G",
"hgvs_p": "p.Asn119Ser",
"transcript": "ENST00000883943.1",
"protein_id": "ENSP00000554002.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 520,
"cds_start": 356,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883943.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1",
"gene_hgnc_id": 11982,
"hgvs_c": "c.356A>G",
"hgvs_p": "p.Asn119Ser",
"transcript": "ENST00000883944.1",
"protein_id": "ENSP00000554003.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 520,
"cds_start": 356,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883944.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1",
"gene_hgnc_id": 11982,
"hgvs_c": "c.356A>G",
"hgvs_p": "p.Asn119Ser",
"transcript": "ENST00000883946.1",
"protein_id": "ENSP00000554005.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 519,
"cds_start": 356,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883946.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1",
"gene_hgnc_id": 11982,
"hgvs_c": "c.356A>G",
"hgvs_p": "p.Asn119Ser",
"transcript": "ENST00000883942.1",
"protein_id": "ENSP00000554001.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 514,
"cds_start": 356,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883942.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1",
"gene_hgnc_id": 11982,
"hgvs_c": "c.356A>G",
"hgvs_p": "p.Asn119Ser",
"transcript": "ENST00000953251.1",
"protein_id": "ENSP00000623310.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 512,
"cds_start": 356,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953251.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1",
"gene_hgnc_id": 11982,
"hgvs_c": "c.356A>G",
"hgvs_p": "p.Asn119Ser",
"transcript": "ENST00000883952.1",
"protein_id": "ENSP00000554011.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 511,
"cds_start": 356,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883952.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1",
"gene_hgnc_id": 11982,
"hgvs_c": "c.356A>G",
"hgvs_p": "p.Asn119Ser",
"transcript": "ENST00000883940.1",
"protein_id": "ENSP00000553999.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 510,
"cds_start": 356,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883940.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1",
"gene_hgnc_id": 11982,
"hgvs_c": "c.356A>G",
"hgvs_p": "p.Asn119Ser",
"transcript": "ENST00000953250.1",
"protein_id": "ENSP00000623309.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 510,
"cds_start": 356,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953250.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1",
"gene_hgnc_id": 11982,
"hgvs_c": "c.356A>G",
"hgvs_p": "p.Asn119Ser",
"transcript": "ENST00000953247.1",
"protein_id": "ENSP00000623306.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 495,
"cds_start": 356,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953247.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1",
"gene_hgnc_id": 11982,
"hgvs_c": "c.356A>G",
"hgvs_p": "p.Asn119Ser",
"transcript": "NM_001135732.2",
"protein_id": "NP_001129204.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 493,
"cds_start": 356,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001135732.2"
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"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
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"gene_symbol": "TOM1",
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"hgvs_c": "n.420A>G",
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"transcript": "NR_024194.2",
"protein_id": null,
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"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_024194.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
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"gene_symbol": "TOM1",
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"hgvs_c": "n.341A>G",
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"transcript": "NR_024195.2",
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"aa_end": null,
"aa_length": null,
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"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_024195.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1",
"gene_hgnc_id": 11982,
"hgvs_c": "n.312A>G",
"hgvs_p": null,
"transcript": "NR_156428.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_156428.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1",
"gene_hgnc_id": 11982,
"hgvs_c": "n.*252A>G",
"hgvs_p": null,
"transcript": "ENST00000404284.6",
"protein_id": "ENSP00000385906.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000404284.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1",
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"hgvs_c": "n.*193A>G",
"hgvs_p": null,
"transcript": "ENST00000424387.5",
"protein_id": "ENSP00000397492.1",
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"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000424387.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1",
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"hgvs_c": "n.*133A>G",
"hgvs_p": null,
"transcript": "ENST00000439512.5",
"protein_id": "ENSP00000394944.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000439512.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1",
"gene_hgnc_id": 11982,
"hgvs_c": "n.*12A>G",
"hgvs_p": null,
"transcript": "ENST00000449508.1",
"protein_id": "ENSP00000390429.1",
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000449508.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1",
"gene_hgnc_id": 11982,
"hgvs_c": "n.-173A>G",
"hgvs_p": null,
"transcript": "ENST00000497448.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000497448.1"
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],
"gene_symbol": "TOM1",
"gene_hgnc_id": 11982,
"dbsnp": "rs761517973",
"frequency_reference_population": 0.000037180987,
"hom_count_reference_population": 0,
"allele_count_reference_population": 60,
"gnomad_exomes_af": 0.000038315,
"gnomad_genomes_af": 0.0000262885,
"gnomad_exomes_ac": 56,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.022134989500045776,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.08,
"revel_prediction": "Benign",
"alphamissense_score": 0.0545,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.72,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.577,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001135732.2",
"gene_symbol": "TOM1",
"hgnc_id": 11982,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown,AD",
"hgvs_c": "c.356A>G",
"hgvs_p": "p.Asn119Ser"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}